| DPH1 and DPH2 variants that confer susceptibility to diphthamide deficiency syndrome in human cells and yeast models. | DPH1 and DPH2 variants that confer susceptibility to diphthamide deficiency syndrome in human cells and yeast models.
Ütkür K, Mayer K, Khan M, Manivannan T, Schaffrath R, Brinkmann U., Free PMC Article | 09/26/2023 |
| The functional variant in promoter of OVCA1 was associated with the risk of gastric cancer in the northeast Chinese Han population. | The functional variant in promoter of OVCA1 was associated with the risk of gastric cancer in the northeast Chinese Han population.
Yu L, Li Y, Wang H, Wang D, Hao H, Zhang D, Liang X, Cai M, Guan R, Bai J, Yu J. | 05/21/2022 |
| An adult Chinese patient with developmental delay with short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome). | An adult Chinese patient with developmental delay with short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome).
Cheng SSW, Luk HM, Lo IFM. | 09/4/2021 |
| DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. | DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.
Urreizti R, Mayer K, Evrony GD, Said E, Castilla-Vallmanya L, Cody NAL, Plasencia G, Gelb BD, Grinberg D, Brinkmann U, Webb BD, Balcells S., Free PMC Article | 02/6/2021 |
| Identification of the transcription factor Miz1 as an essential regulator of diphthamide biosynthesis using a CRISPR-mediated genome-wide screen. | Identification of the transcription factor Miz1 as an essential regulator of diphthamide biosynthesis using a CRISPR-mediated genome-wide screen.
Liu J, Zuo Z, Zou M, Finkel T, Liu S., Free PMC Article | 01/2/2021 |
| novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features | A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features.
Sekiguchi F, Nasiri J, Sedghi M, Salehi M, Hosseinzadeh M, Okamoto N, Mizuguchi T, Nakashima M, Miyatake S, Takata A, Miyake N, Matsumoto N. | 09/8/2018 |
| We used WES to identify novel compound heterozygous mutations in DPH1 (c.289delG, p.Glu97Lysfs*8 and c.491T>C, p.Leu164Pro) in a patient from a nonconsanguineous family presenting with intellectual disability, a short stature, craniofacial abnormalities, and external genital abnormalities. | Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities.
Nakajima J, Oana S, Sakaguchi T, Nakashima M, Numabe H, Kawashima H, Matsumoto N, Miyake N. | 09/8/2018 |
| DPH1 functions as an oncogene in CRC and can be negatively modulated by miR-218-5p to promote CRC tumourigenesis. | Diphthamide Biosynthesis 1 is a Novel Oncogene in Colorectal Cancer Cells and is Regulated by MiR-218-5p.
Liu M, Yin K, Guo X, Feng H, Yuan M, Liu Y, Zhang J, Guo B, Wang C, Zhou G, Zhou Z, Zhang CY, Chen X. | 01/20/2018 |
| Results identified a second homozygous missense variant in DPH1, seen in four members of a founder population, and associated with autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. | Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies.
Loucks CM, Parboosingh JS, Shaheen R, Bernier FP, McLeod DR, Seidahmed MZ, Puffenberger EG, Ober C, Hegele RA, Boycott KM, Alkuraya FS, Innes AM., Free PMC Article | 07/2/2016 |
| Methylation of the DPH1 promoter causes immunotoxin resistance in acute lymphoblastic leukemia. | Methylation of the DPH1 promoter causes immunotoxin resistance in acute lymphoblastic leukemia cell line KOPN-8.
Hu X, Wei H, Xiang L, Chertov O, Wayne AS, Bera TK, Pastan I., Free PMC Article | 01/11/2014 |
| OVCA1 could inhibit the proliferation of ovarian cancer cells by p16/cyclin D1 pathway, but not by NF-kappaB | OVCA1 inhibits the proliferation of epithelial ovarian cancer cells by decreasing cyclin D1 and increasing p16.
Kong F, Tong R, Jia L, Wei W, Miao X, Zhao X, Sun W, Yang G, Zhao C. | 10/22/2011 |